Communications Biology,
Год журнала:
2025,
Номер
8(1)
Опубликована: Апрель 5, 2025
Non-obstructive
azoospermia,
a
severe
form
of
male
infertility
caused
by
spermatogenic
failure
(SPGF),
has
largely
unknown
genetic
basis
across
ancestries.
To
our
knowledge,
this
is
the
first
trans-ethnic
meta-analysis
genome-wide
association
studies
on
SPGF,
involving
2255
men
with
idiopathic
SPGF
and
3608
controls
from
European
Asian
populations.
Using
logistic
regression
inverse
variance
methods,
we
identify
two
significant
associations
Sertoli
cell-only
(SCO)
syndrome,
most
extreme
phenotype.
The
G
allele
rs34915133,
in
major
histocompatibility
complex
class
II
region,
significantly
increases
SCO
risk
(P
=
5.25E-10,
OR
1.57),
supporting
potential
immune-related
cause.
Additionally,
rs10842262
variant
SOX5
gene
region
also
marker
5.29E-09,
0.72),
highlighting
key
role
reproductive
function.
Our
findings
reveal
shared
factors
ancestries
provide
insights
into
molecular
mechanisms
underlying
SCO.
Cell Reports Medicine,
Год журнала:
2024,
Номер
5(5), С. 101529 - 101529
Опубликована: Май 1, 2024
The
size
of
the
human
head
is
highly
heritable,
but
genetic
drivers
its
variation
within
general
population
remain
unmapped.
We
perform
a
genome-wide
association
study
on
(N
=
80,890)
and
identify
67
loci,
which
50
are
novel.
Neuroimaging
studies
show
that
17
variants
affect
specific
brain
areas,
most
have
widespread
effects.
Gene
set
enrichment
observed
for
various
cancers
p53,
Wnt,
ErbB
signaling
pathways.
Genes
harboring
lead
enriched
macrocephaly
syndrome
genes
(37-fold)
high-fidelity
cancer
(9-fold),
not
seen
height
variants.
Head
also
near
preferentially
expressed
in
intermediate
progenitor
cells,
neural
cells
linked
to
evolutionary
expansion.
Our
results
indicate
regulating
early
cranial
growth
incline
neoplasia
later
life,
irrespective
height.
This
warrants
investigation
clinical
implications
link
between
cancer.
Hepatology,
Год журнала:
2021,
Номер
75(4), С. 955 - 967
Опубликована: Окт. 11, 2021
Hispanics
are
disproportionately
affected
by
NAFLD,
liver
fibrosis,
cirrhosis,
and
HCC.
Preventive
strategies
noninvasive
means
to
identify
those
in
this
population
at
high
risk
for
urgently
needed.
We
aimed
characterize
the
gut
microbiome
signatures
related
biological
functions
associated
with
fibrosis
environmental
genetic
factors
affecting
them.
The
gut
microbiome
composition
varies
across
ethnicities
and
geographical
locations,
yet
studies
on
diabetes-associated
changes
specific
to
high-risk
Mexican
Americans
are
lacking.
Here,
we
aimed
identify
alterations
associated
with
diabetes
in
this
population,
as
well
host
genetic
factors
that
may
explain
increased
disease
susceptibility
ethnic
group.
Genes,
Год журнала:
2023,
Номер
14(6), С. 1171 - 1171
Опубликована: Май 27, 2023
HSPA8
is
involved
in
many
stroke-associated
cellular
processes,
playing
a
pivotal
role
the
protein
quality
control
system.
Here
we
report
results
of
pilot
study
aimed
at
determining
whether
SNPs
are
linked
to
risk
ischemic
stroke
(IS).
DNA
samples
from
2139
Russians
(888
IS
patients
and
1251
healthy
controls)
were
genotyped
for
tagSNPs
(rs1461496,
rs10892958,
rs1136141)
gene
using
probe-based
PCR.
SNP
rs10892958
was
associated
with
an
increased
(risk
allele
G)
smokers
(OR
=
1.37;
95%
CI
1.07–1.77;
p
0.01)
low
fruit
vegetable
consumption
1.36;
1.14–1.63;
0.002).
rs1136141
also
A)
exclusively
1.68;
1.23–2.28;
0.0007)
intake
1.29;
1.05–1.60;
0.04).
Sex-stratified
analysis
revealed
association
males
G;
OR
1.30;
1.05–1.61;
0.01).
Thus,
represent
novel
genetic
markers
IS.
medRxiv (Cold Spring Harbor Laboratory),
Год журнала:
2020,
Номер
unknown
Опубликована: Май 7, 2020
ABSTRACT
Introduction
Humans
and
viruses
have
co-evolved
for
millennia
resulting
in
a
complex
host
genetic
architecture.
Understanding
the
mechanisms
of
immune
response
to
viral
infection
provides
insight
into
disease
etiology
therapeutic
opportunities.
Methods
We
conducted
comprehensive
study
including
genome-wide
transcriptome-wide
association
analyses
identify
loci
associated
with
immunoglobulin
G
antibody
28
antigens
16
using
serological
data
from
7924
European
ancestry
participants
UK
Biobank
cohort.
Results
Signals
human
leukocyte
antigen
(HLA)
class
II
region
dominated
landscape
response,
40
independent
14
classical
alleles,
7
which
exhibited
pleiotropic
effects
across
families.
identified
specific
amino
acid
(AA)
residues
that
are
seroreactivity,
strongest
associations
presented
range
AA
positions
within
DRβi
at
11,
13,
71,
74
Epstein-Barr
Virus
(EBV),
Varicella
Zoster
(VZV),
Human
Herpes
virus
7,
(HHV7)
Merkel
cell
polyomavirus
(MCV).
Genome-wide
discovered
novel
outside
HLA
(
P
<5.0×10
-8
),
FUT2
(19q13.33)
BK
(BKV),
STING1
(5q31.2)
MCV,
as
well
CXCR5
(11q23.3)
TBKBP1
(17q21.32)
HHV7.
Transcriptome-wide
114
genes
infection,
12
region,
ECSCR
:
P=5.0*10
-15
(MCV),
NTN5:
P=1.1×10
-9
P2RY13:
EBV
nuclear
antigen.
also
demonstrated
pleiotropy
between
diseases;
autoimmune
disorders
cancer
neurodegenerative
psychiatric
conditions.
Conclusions
Our
confirms
importance
elucidates
determinants
beyond
contribute
host-virus
interaction.
International Journal of Molecular Sciences,
Год журнала:
2023,
Номер
24(10), С. 8716 - 8716
Опубликована: Май 13, 2023
The
SERBP1
gene
is
a
well-known
regulator
of
SERPINE1
mRNA
stability
and
progesterone
signaling.
However,
the
chaperone-like
properties
have
recently
been
discovered.
present
pilot
study
investigated
whether
SNPs
are
associated
with
risk
clinical
manifestations
ischemic
stroke
(IS).
DNA
samples
from
2060
unrelated
Russian
subjects
(869
IS
patients
1191
healthy
controls)
were
genotyped
for
5
common
SNPs—rs4655707,
rs1058074,
rs12561767,
rs12566098,
rs6702742
SERBP1—using
probe-based
PCR.
association
SNP
rs12566098
an
increased
(risk
allele
C;
p
=
0.001)
was
observed
regardless
gender
or
physical
activity
level
modified
by
smoking,
fruit
vegetable
intake,
body
mass
index.
rs1058074
C)
exclusively
in
women
(p
0.02),
non-smokers
0.003),
low
0.04),
consumption
BMI
≥25
0.007).
rs12561767
0.01),
0.036),
rs4655707
0.04)
shortening
activated
partial
thromboplastin
time.
Thus,
represent
novel
genetic
markers
IS.
Further
studies
required
to
confirm
relationship
between
polymorphism
risk.
RESEARCH RESULTS IN BIOMEDICINE,
Год журнала:
2022,
Номер
8(3)
Опубликована: Сен. 19, 2022
Background:
Ischemic
stroke
(IS)
is
the
leading
cause
of
death
and
disability
worldwide.
Chaperone
proteins
protect
brain
cells
from
ischemic
damage
by
restoring
structures
damaged
proteins.
C9orf16
(also
known
as
BBLN)
belongs
to
class
heat-resistant
obscure
(HERO)
proteins,
characterized
ability
stabilize
various
suppress
neurotoxicity
reduce
proteotoxic
stress.
In
this
regard,
it
may
play
a
potentially
significant
role
in
risk
development
clinical
manifestations
IS.
The
aim
study:
To
investigate
an
association
between
single
nucleotide
polymorphism
rs2900262
gene
encoding
predisposition
Materials
methods:
A
total
897
patients
with
IS
1140
healthy
controls
were
recruited
for
study.
Genotyping
was
done
using
probe-based
genotyping
assay.
Multiple
logistic
regression
analysis
performed
evaluate
associations
genotypes
events.
Dominant,
recessive
additive
models
analyzed.
Adjustment
sex,
age,
smoking
throughout.
Benjamini-Hogberg
false-discovery
rate
used
correct
multiple
comparisons.
Results:
rs2900262*T
allele
found
be
associated
increased
exclusively
females
(dominant
model:
OR=1.74,
95%
CI=1.07-2.82,
PFDR=0.042;
OR=1.69,
CI=1.06-2.71,
PFDR=0.042).
Additional
showed
that
smokers
only
OR=1.92,
CI=1.09-3.37,
OR=1.79,
95%CI=1.04-3.08,
Also,
we
demonstrated
C/T-T/T
genotype
carriers
exhibit
earlier
manifestation
(59.53±1.12
years)
compared
C/C
(61.63±0.4
years);
mean
difference=-1.98;
CI=-3.61
–
-0.36;
PFDR=0.026.
Conclusion:
This
study
first
world
demonstrate
possible
contribution
stroke.